Vliet Rob van, Roelofs Luc A J, Rassouli-Kirchmeier Roxana, de Gier Robert P E, Claahsen-van der Grinten Hedi L, Verhaak Chris, Hosman Allard J, Beerendonk Catharina C M, van Lindert Erik J, Willemsen Michel A A P, Wijnen Marc H W A, Feitz Wout F J, de Blaauw Ivo
Division of Pediatric Surgery, Department of Surgery, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
Division of Pediatric Urology, Department of Urology, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
Eur J Pediatr Surg. 2015 Feb;25(1):87-93. doi: 10.1055/s-0034-1387943. Epub 2014 Nov 25.
Cloacal exstrophy is a complex and rare congenital malformation. Because of improvements in medicine, operative techniques, and perioperative management the survival rates are now approaching 100%. Currently, treatment is focused on improving quality of life. Since 1974, we encountered 20 patients with cloacal exstrophy in our hospital. The aim of this study is to evaluate our clinical experience and outcome during the last 39 years.
A retrospective study of the medical records was performed. We evaluated anatomical status, phenotype and genotype at birth, subsequent surgical treatment and current gastrointestinal, urinary, spinal, genital, and gender status and outcome.
The records of all 20 patients who were treated in our center were included in this study. Of the 20 patients, 18 were primary patients, 2 referred. Six patients died within the first year of life. Median age of the surviving 14 patients was 25 years (range, 4-39 years) at time of evaluation. At the last follow-up, 11 patients had an endileostomy or endcolostomy. Three patients had a pull-through; two of them were continent for feces. Two patients were continent for urine; one with a sinus urogenitalis and one after urethra reconstruction. Eleven patients are incontinent; six of them had an incontinent urinary deviation (Bricker deviation). Of the other five incontinent patients, two had a urethral reconstruction, one vesicovaginal anastomosis, one perineotomy, and one epispadias bladder. Urinary continence was unknown in one patient. Of the surviving patients, nine have 46 XY karyotype and five 46 XX karyotype. Initially, six XY patients underwent external genital reconstruction with reassignment to female gender; however, one died postoperatively. One declared to feel like a man at age of 15 years. Remaining four XY patients underwent male external genital reconstruction. All XX patients underwent vagina or vulva reconstruction, except for one who still has aplasia vaginae. All patients were born with varying types of spinal dysraphism.
Despite medical efforts and development in treatment and support, satisfaction in outcome of cloacal exstrophy remains a challenge. Although reconstruction may be very difficult, male genital reconstruction in 46 XY patients has been given preference for more than a decade. A specialized multidisciplinary team should provide lifelong colorectal, urological, sexual, and psychosocial support to these patients, taking into account their age and phase of life.
泄殖腔外翻是一种复杂且罕见的先天性畸形。由于医学、手术技术及围手术期管理的进步，目前其生存率已接近100%。当前，治疗重点在于提高生活质量。自1974年以来，我院共收治20例泄殖腔外翻患者。本研究旨在评估过去39年我们的临床经验及治疗结果。
对病历进行回顾性研究。我们评估了患者出生时的解剖状况、表型和基因型、后续手术治疗情况以及当前的胃肠、泌尿、脊柱、生殖和性别状况及治疗结果。
本研究纳入了在我院接受治疗的所有20例患者的记录。20例患者中，18例为初诊患者，2例为转诊患者。6例患者在出生后第一年内死亡。在接受评估时，存活的14例患者的中位年龄为25岁（范围4 - 39岁）。在最后一次随访时，11例患者行末端回肠造口术或结肠造口术。3例患者行拖出术；其中2例大便能自控。2例患者小便能自控；1例有泌尿生殖窦，1例在尿道重建术后。11例患者大小便失禁；其中6例有尿失禁性尿道移位（布里克移位）。在其他5例大小便失禁的患者中，2例行尿道重建术，1例行膀胱阴道吻合术，1例行会阴切开术，1例行阴茎头型尿道下裂膀胱修复术。1例患者的尿失禁情况不明。在存活患者中，9例核型为46 XY，5例核型为46 XX。最初，6例核型为XY的患者接受了外生殖器重建并被重新指定为女性性别；然而，1例术后死亡。1例在15岁时宣称感觉自己像男性。其余4例核型为XY的患者接受了男性外生殖器重建。所有核型为XX的患者均接受了阴道或外阴重建，除1例仍存在阴道发育不全。所有患者出生时均伴有不同类型的脊柱裂。
尽管在治疗和支持方面付出了医学努力并取得了进展，但泄殖腔外翻的治疗结果满意度仍是一项挑战。尽管重建可能非常困难，但十多年来，46 XY患者的男性生殖器重建一直受到优先考虑。一个专业的多学科团队应根据这些患者的年龄和生活阶段，为他们提供终身的结直肠、泌尿、性和心理社会支持。
